Improved Diagnosis For Essential Tremor

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Main Category: Neurology / Neuroscience
Also Included In: Genetics;  Muscular Dystrophy / ALS
Article Date: 04 Aug 2012 - 0:00 PDT Current ratings for:
Improved Diagnosis For Essential Tremor

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers published their findings tomorrow in The American Journal of Human Genetics.

Exactly why this shaking occurs has remained unknown, despite the work of many clinicians and researchers for decades. While it is known that there is a problem with the parts of the brain that control certain muscles, it has been a challenging endeavor to identify what exactly is malfunctioning in the nervous system of affected individuals. Despite strong evidence that the disease has a genetic basis and years of research effort, no actual genetic link had been identified until today.

Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. The ET research team was successful in identifying mutations that cause ET in this gene, and they also proved that the disease mechanisms for ET and ALS FUS mutations are different. "When I started my post-doctoral work in the Rouleau laboratory, I felt compelled to study essential tremor. I saw a great opportunity to identify the first ET gene considering the plethora of families collected for study in the laboratory, and the availability of new sequencing technologies that has revolutionized gene discovery efforts," said lead author Dr. Nancy Merner. "As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts."

The other members of the research team share her clinical focus. "This discovery has provided the world with the first insight toward the disease mechanism of essential tremor, which is crucial for disease management, particularly for future drug developments. It also presents a logical approach that can be used for additional ET gene discoveries, which we are currently pursuing" said Dr. Guy Rouleau. "There is currently a lack of consensus on the diagnostic criteria of ET thus a genetic diagnosis can be beneficial, especially for familial cases. Transitioning to a genetic diagnosis would cut down on ET misdiagnosis," added Dr. Patrick Dion who is another key researcher on this project. Misdiagnosis occurs in 37-50% of individual cases.

To affected individuals, the tremors are generally annoying and embarrassing, and can interfere with everyday tasks such as working, writing, eating, or drinking, since tremors affecting the hands are the most common and affected individuals can have trouble holding or using small objects. "Our overall goal in this endeavor is to improve the quality of life of affected individuals," said Dr. Merner. "The road is now paved for improvement."

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our neurology / neuroscience section for the latest news on this subject. The identification of FUS was performed in the Rouleau laboratory and supported by the Chaire Jeanne-et-J.-Louis-Lévesque en Génétique des Maladies du Cerveau de l'Université de Montréal. The Canadian Institutes of Health Research has also funded the pursuit for additional ET genes.
About the study:
"Exome sequencing identifies FUS mutations as a cause of essential tremor." Authors: Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Veronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, and Guy. A Rouleau
About the researchers:
Dr. Guy Rouleau, M.D., PhD, Professor, Faculty of Medicine, Université de Montréal, Director of the CHU Ste-Justine Research Centre, Investigator at the Research Centre of the Centre hospitalier de l'Université de Montréal.
Dr. Nancy Merner, Ph.D., post-doctoral fellow, Faculty of Medicine, Université de Montréal
Dr. Patrick Dion, Ph.D., Research associate, Faculty of Medicine, Université de Montréal
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Improved Understanding Of Mechanisms That Confer Virulence To E.coli-Type Bacteria

Main Category: Public Health
Article Date: 12 Dec 2011 - 1:00 PST

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A team headed by scientists from the Institute for Research in Biomedicine (IRB Barcelona) reports how the protein Ler, which is found in pathogenic bacteria, interacts with certain DNA sequences, thereby activating numerous genes responsible for virulence, which bacteria then exploit to infect human cells. Ler is present in pathogenic Escherichia coli (E.coli) strains, such as the one that caused a deadly infectious outbreak in Germany last May. The study has been published in the scientific journal PloS Pathogens.

The researchers have solved the three-dimensional structure of a key region of the DNA-protein complex. Knowledge about the structures that control the activity of genes associated with virulence and resistance to antibiotics is crucial to understand the molecular mechanisms that regulate bacterial pathogenicity and to pave the way for alternative treatments to conventional antibiotics. According to Jesús García, research associate in the IRB Barcelona group headed by Miquel Pons, researcher at IRB Barcelona and professor of the UB, "a strategy based on selective regulatory systems for genes responsible for virulence is particularly attractive because it could potentially minimize the adverse effects on our bacterial flora and reduce the selective pressure for the development of antibiotic resistance in bacteria".

Horizontal gene transfer

Many of the genes responsible for pathogenic bacteria virulence and resistance to antibiotics have been acquired through processes such as horizontal gene transfer (HGT). By means of this mechanism, bacteria incorporate genetic material from external sources such as bacteria or phages (viruses that affect bacteria). The correct regulation of HGT genes, in other words silencing when not required and coordinated activation to produce a beneficial effect, is crucial for the success of bacteria.

"The resolved structure has allowed us to understand the way in which Ler recognizes its DNA binding sites. Ler does not recognize specific sequences but local DNA structures. In our study we also tested whether this recognition mode is used by other proteins of the same family, such as H-NS", explains García. The Ler and H-NS proteins play a critical role in the regulation of genes acquired through HGT in pathogenic E. coli strains.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our public health section for the latest news on this subject. The study forms part of Tiago N. Cordeiro’s doctoral thesis and has involved researchers from the Institute for Bioengineering of Catalonia (IBEC), the University of Barcelona (UB) and the Max Planck Institute for Biophysical Chemistry in Göttingen.
Indirect DNA Readout by an H-NS Related Protein: Structure of the DNA Complex of the C-Terminal Domain of Ler.
Tiago N. Cordeiro; Holger Schmidt; Cristina Madrid; Antonio Juárez; Pau Bernadó; Christian Griesinger; Jesus García; Miquel Pons.
PLoS Pathog 7(11): e1002380. doi:10.1371/journal.ppat.1002380
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Improved Technology May Obviate Need For Drug When Assessing Patients For A Coronary Stent

Main Category: Heart Disease
Also Included In: Cardiovascular / Cardiology
Article Date: 08 Dec 2011 - 2:00 PST

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Improved diagnostic technology may obviate need for drug when assessing whether a patient needs a coronary stent.

A new method for measuring narrowing in the arteries of the heart may allow patients to be assessed for a stent without having to take a drug with unpleasant side effects.

In England, it is estimated that one in seven men and one in 12 women over the age of 65 experience chest pain called angina caused by narrowing of the arteries in the heart. Around 60,000 such patients a year are fitted with a coronary stent a wire mesh tube that acts as a scaffold to keep open arteries that risk becoming blocked, leading to a heart attack. However, stents sometimes lead to problems later on as they can promote the growth of scar tissue, leading to re-narrowing of the artery. It is therefore important to determine when a stent is needed and when it might not be worth the risk.

The most accurate method currently used to measure narrowing in arteries requires the patient to take a drug such as adenosine that dilates the blood vessels. Now, a refined, investigational drug-free technique may be just as reliable, according to the results of a feasibility study published today in the Journal of the American College of Cardiology.

Doctors traditionally assess narrowing of the coronary arteries using an X-ray image called a coronary angiogram, but it may not always be clear from the angiogram whether a stent is absolutely necessary.

A technique called fractional flow reserve (FFR), which involves inserting a wire into the artery to measure changes in blood pressure, is sometimes used in addition to an angiogram to give a more clinically accurate measurement to help clinicians make the decision to insert a stent. However, FFR requires the patient to be given a drug such as adenosine to dilate blood vessels, which can cause unpleasant side effects including facial flushing and shortness of breath. Although there is good evidence that FFR is useful, it is done in only 5-10 per cent of cardiac stenting procedures because it is costly, time-consuming and some patients cannot receive adenosine, such as patients with certain heart conduction diseases.

Now, researchers at Imperial College London, in collaboration with US-based medical technology company Volcano Corporation (NASDAQ: VOLC), have developed a way to measure narrowings in the arteries instantaneously, using the same instruments as FFR but without the need for a drug. The new investigational method, termed the instant wave-Free Ratio™ (iFR™ ,could benefit patients by making it easier for doctors to determine whether a stent is the best option.

"FFR is a valuable tool that helps doctors make treatment decisions, but certain barriers mean it isn't used as often as it might be," said lead researcher Dr Justin Davies, from the National Heart and Lung Institute at Imperial College London. "One of those barriers is the need to inject adenosine, which simulates how the heart behaves when the patient is exercising. Having to use adenosine increases the time, cost and complexity of the procedure, not to mention causing some discomfort for the patient. Our new approach could enable doctors to perform an accurate measurement without the use of drugs. We think this will have a big impact on clinical practice."

Like FFR, iFR works by inserting a wire into the coronary artery to measure blood pressure on either side of the narrowing. Dr Davies and his colleagues demonstrated that it was possible to obtain a measurement during a particular time in the heart's cycle, which did not depend on using drugs to dilate the blood vessels.

In the study, the researchers used the new iFR method to measure 157 artery narrowings in 131 patients. They found that iFR produced very similar results to FFR, and that the measurements using iFR were highly reproducible.

This study was funded by the Imperial Comprehensive Biomedical Research Centre, established by a grant from the National Institute for Health Research; and the Coronary Flow Trust with support from Volcano Corporation. iFR is an investigational method being developed, and upon regulatory approval will be commercialized, by Volcano. Additional research is planned to validate this new methodology.

Article adapted by Medical News Today from original press release. Source: Imperial College London
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In Polycystic Kidney Disease Model, Vasodilator Hormone Improved Kidney Function & Blood Flow

Main Category: Urology / Nephrology
Also Included In: Genetics;  Endocrinology
Article Date: 08 Dec 2011 - 0:00 PST

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After a four-week course of the vasodilator hormone relaxin, kidney function and blood flow immediately improved in lab rats genetically altered to model polycystic kidney disease (PKD), a life-threatening genetic disorder, according to research presented at the American Society for Cell Biology Annual Meeting in Denver.

In addition to widening the blood vessels, relaxin lowered the collagen scores of the PKD rats, indicating that the drug had slowed scar formation or helped dissolve the old fibroid tissue that characterizes the kidneys of animals and humans with the disease, according to Heather Ward, Ph.D., and Angela Wandinger-Ness, Ph.D., of the University of New Mexico and collaborators.

PKD is a life-threatening genetic disorder that affects 600,000 Americans, according to the National Institute of Diabetes, Digestive, and Kidney Diseases (NIDDK). About 50% of individuals diagnosed with PKD develop end-stage renal disease by age 60.

The researchers also noted that in rats, relaxin reduced the size of the large fluid-filled cysts that gradually encroach on kidney function in human PKD patients.

PKD was the first disease to be recognized as a ciliopathy, a disorder characterized by defects in primary cilia, tiny hair-like structures that protrude from virtually every cell in the human body.

In the search of effective treatments, most PKD researchers have concentrated on halting or reversing PKD's characteristic cyst formation.

Ward and her colleagues instead examined the non-cystic aspects of PKD progression, particularly the poor blood flow and extensive internal scarring called fibrosis that encroaches on the glomeruli, the vital clusters of looping blood vessels that filter wastes and excess water from the blood.

They decided to evaluate relaxin because the hormone is a powerful vasodilator. It was first identified in pregnant women but also occurs in men.

Prompted by the hormone's positive effects on the PKD animals, Ward and colleagues explored the differences in kidney gene expression between relaxin and control-treated rats. The results of the gene expression analysis suggested that relaxin, in part, affects genes associated with epithelial trafficking.

The researchers said that they hypothesize that relaxin's direct effect on signaling pathways of kidney fibroblasts and vascular cells improves the renal environment, indirectly affecting cystic epithelia and slowing cyst growth.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
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